Varaico: Literature-Extracted Genetic Variants

NLRP3

1,456 papers

RefSeq Summary

This gene encodes a pyrin-like protein containing a pyrin domain, a nucleotide-binding site (NBS) domain, and a leucine-rich repeat (LRR) motif. This protein interacts with the apoptosis-associated sp...

Pfam Domains

PYRINaa 7–83UCSCPAAD/DAPIN/Pyrin domain

FISNAaa 138–208UCSCFish-specific NACHT associated domain

NACHTaa 218–387UCSCNACHT domain

WHD_NOD2aa 462–518UCSCNOD2 winged helix domain

NLRC4_HD2aa 520–643UCSCNLRC4 helical domain HD2

LRR_6aa 737–760UCSCLeucine Rich repeat

Gene Aliases

HGNC Name

NLR family pyrin domain containing 3

HGNC Previous Symbols

CIAS1; DFNA34

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001243133.2

p.T436T

c.1308C>A

Surrounding Variants

7 papers

NM_001243133.2

p.T436T

c.1308C>T

19 papers

NM_001243133.2

p.T436N

c.1307C>A

9 papers

NM_001243133.2

p.T436I

c.1307C>T

NM_004895.5

p.T438I

c.1313C>T

4 papers

NM_004895.5

p.T438P

c.1312A>C

NM_001243133.2

p.T436P

c.1306A>C

14 papers

NM_004895.5

p.T438A

c.1312A>G

NM_001243133.2

p.T436A

c.1306A>G

1 paper

NM_001243133.2

p.T437N

c.1310C>A

1 paper

NM_004895.5

p.T439I

c.1316C>T

4 papers

NM_004895.5

p.K437N

c.1311G>C

NM_001243133.2

p.K435N

c.1305G>C

4 papers

NM_004895.5

p.K437N

c.1311G>T

NM_001243133.2

p.K435N

c.1305G>T

3 papers

NM_004895.5

p.T440del1

c.1318_1319delACC

NM_001243133.2

p.T436del1

c.1306_1307delACC

2 papers

NM_001243133.2

p.T438P

c.1312A>C

3 papers

NM_001243133.2

p.T438A

c.1312A>G